Articles tagged with Genetic Testing
A comprehensive genetic testing protocol increased patient compliance with recommended testing from 33.3% to 98.7%, while also reducing turnaround time for genetic test results.
A Northwestern University study found that as people age, their cerebrospinal fluid immune system becomes dysregulated, leading to cognitive impairment and neurodegeneration. The discovery provides a new clue to the process of neurodegeneration and may potentially be used to treat inflammation of the brain.
Researchers discovered that cabbage white butterfly caterpillars use two complementary enzymes for detoxification, allowing them to adapt to various cruciferous plants. The NSP and MA enzymes differ in their capacity to process different glucosinolates, enabling the caterpillars to fine-tune their detoxification mechanisms.
Research by Uppsala University and Swedish University of Agricultural Sciences links atopic dermatitis in dogs to specific genome regions. The study identifies genes coinciding with human atopic eczema, including the filaggrin gene region.
A study found that genetic variants near ERAP2 and TICAM2 provided protection against Yersinia pestis, the bacterium responsible for the Black Death. These variants were also associated with improved detection and resistance to other pathogens, but at a cost: increased risk of autoimmune disorders like Crohn's disease.
Research emphasizes the importance of ethnically diverse prostate cancer genomics data and accessible genetic testing. Variations in genomic landscape of prostate cancer were observed in Chinese men compared to Western cohorts, with lower mutation rates in driver genes such as TP53 and PTEN.
A genetic test known as chromosomal microarray analysis (CMA) may be able to identify the cause of Sudden Infant Death Syndrome (SIDS) or its counterpart in older children, known as Sudden Unexplained Death in Childhood (SUDC). CMA identified deletions or duplications of DNA segments in 14% of deceased infants and toddlers up to 28 mon...
Researchers discover exceptional individual with 12 tumors, shedding light on early detection methods and immune system response. Single-cell analysis technology shows promise in identifying cells with tumor potential before symptoms appear.
Researchers at MIT have developed a new control system for synthetic genes that can precisely regulate protein production in mammalian cells. The system uses CRISPR proteins to activate target genes and can be tuned to produce specific quantities of proteins, such as monoclonal antibodies.
Researchers at Rice University have developed a procedure to quantify unintended changes that accompany on-target CRISPR-Cas9 gene editing, potentially threatening the efficacy and safety of therapies. The new method uses single-molecule sequencing with unique molecular identifiers to detect large deletions, insertions, and chromosomal...
A novel genetic analysis by University of Ottawa researchers reveals that climate change could lead to an increased risk of viral spillover in the High Arctic. This increased risk may result in new viruses infecting previously uninfected hosts, potentially leading to emerging pandemics.
A recent study identifies a specific gene, GNL3, that regulates neural proliferation in response to lithium, which is used to treat bipolar disorder. This gene plays an important role in brain function and has been implicated in risk for bipolar disorder, schizophrenia, and inter-individual variations in intelligence.
A recent poll reveals that 48% of people aged 50-80 have purchased at least one home health test, including COVID-19 and DNA tests. Notably, 82% of older adults express interest in future medical tests at home, while 90% agree to share results with their healthcare provider.
Researchers discovered that plasmids can linger in the nose of lab workers for weeks, interfering with clinical diagnostic tests. The study highlights the importance of considering occupational exposure in diagnosis and treatment.
Researchers have developed genetic testing to diagnose cardiomyopathy in children, identifying those at risk of heart failure and requiring a transplant. The test provides precise clinical diagnosis, enabling targeted treatment options and reducing the need for life-threatening interventions.
A new variant of adeno-associated virus (AAV) shows significant improvement in delivering gene therapies to the central nervous system (CNS), potentially treating brain cancers and genetic diseases. The AAV variant, identified as CPP.16, demonstrates enhanced delivery efficiency across the blood-brain barrier in preclinical models.
A new genetic test called PancreaSeq accurately classifies pancreatic cysts as potentially cancerous or benign, improving the accuracy of diagnoses compared to current guidelines. The test distinguishes between different types of cysts with higher accuracy than traditional forms of surveillance and current pancreatic cyst guidelines.
A new research paper has demonstrated that psychological factors, such as feeling unhappy or being lonely, add up to 1.65 years to one's biological age, significantly impacting overall health and longevity.
A new study found that arbitrary age limits and rules on genetic testing for amyotrophic lateral sclerosis (ALS) could be missed, leading to thousands of potential cases going undetected. The researchers argue that genetic testing should be open to all patients with ALS, regardless of age or family history.
A new study found that integrating genetic testing into electronic health records (EHRs) significantly reduces clinician workload, with average savings of 45 minutes per day. Clinicians can now order and manage tests directly through the EHR, resulting in reduced time spent on clerical work.
Researchers suggest a new approach for regulating genetically engineered (GE) crops by examining the specific characteristics of the crop itself. The '-omics' methods can be used to scan new crop varieties for unexpected DNA changes, eliminating the need for safety testing if the product is substantially equivalent to existing varieties.
A new study from Lund University reveals that PCA, a widely used statistical method in population genetics, is deeply flawed. The method can produce flexible and unreliable results, leading to misconceptions about ethnicity and genetic relationships.
A new study from Lund University reveals that the most common analytical method in population genetics is deeply flawed, leading to incorrect results and misconceptions about ethnicity and genetic relationships. The method has been used in hundreds of thousands of studies, including medical genetics and commercial ancestry tests.
Researchers at Brain Chemistry Labs have developed a new blood test for ALS using microRNA sequences, which accurately discriminated between patients and healthy individuals. The test works even with varying environmental conditions, offering hope for rapid diagnosis and improved patient outcomes.
The study analyzed blood samples from bottlenose dolphins in the northern Gulf of Mexico, finding changes in gene expression related to immune response and oxidative stress. The results provide new insights into the health impacts of oil spills on marine life.
Researchers analyzed genetic data from nearly 43,000 people with autism and identified a novel group of inherited genes of moderate effect. The study shows that these genes contribute to autism through inherited variants and are associated with other neurodevelopmental disorders.
Researchers at Terasaki Institute create micro-organospheres for direct viral infection, immune cell penetration, and high-throughput therapeutic drug screening. The technology holds promise for personalized medicine, tumor therapy and rapid drug testing.
Scientists developed a same-day test to identify abnormal fetal chromosomes using prenatal tests and tissue from miscarriage or biopsies. The STORK test shows promise in diagnosing genetic causes of miscarriage and streamlining IVF, potentially saving time and cost.
A study published in Patterns shows that five digital medicine companies share browsing data related to health topics with Facebook for lead generation and advertising purposes. The researchers found that two companies targeted ads consistent with their own privacy policies, while the other three did not comply with their policies.
The NCI-backed Molecular Targets Platform streamlines and catalyzes drug development by integrating pediatric cancer targets and pathways. This platform empowers researchers, pharmaceutical companies, and advocacy groups to accelerate the pace of drug development for pediatric cancer.
A VA study found nearly identical genetic variations contributing to coronary heart disease risk across major racial and ethnic backgrounds. The findings suggest that other factors like access to healthcare contribute to higher heart disease rates in certain populations.
A new Bayesian method and genomic data analysis reveal strong statistical support for the 'Pleistocene aggregate island complex (PAIC) model', a theory suggesting species diversification during ice ages. This study tested the PAIC model in two genera of lizards, each with species found only in the Philippines.
A study found that pharmacogenomic testing can help providers avoid prescribing antidepressants with undesirable outcomes. The test, which analyzes genes related to drug metabolism, resulted in a significant improvement in depression symptoms compared to usual care.
A study reveals how consumer DNA testing is changing the way people seek information about genetic relatives in donor conception, including ethnic estimates and tracing half-siblings. The widespread availability of commercial DNA databanks is transforming the landscape of donor conception.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A heat-loving bacterium's Cas13 protein enables specific detection of SARS-CoV-2 and other viruses in a one-pot assay. The technology has been patented and clinically validated, with the aim of mass production and commercialization.
A new digital PCR technique helps identify mutations in malaria parasites that evade detection by rapid tests, reducing false negatives. This allows for more accurate selection of diagnostic tests tailored to specific regions.
Researchers have developed an app to help doctors identify patients with chronic lymphocytic leukemia (CLL) at risk of developing infections, allowing for earlier treatment. The app uses blood test results and genetic data to predict patient risk, improving treatment outcomes and reducing pressure on the healthcare system.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
Researchers evaluate Jumpcode Genomics CRISPRclean technology for transforming pandemic response through highly sensitive testing. The assay quickly identifies variant strain types and individual host responses in a single workflow.
A new study examines mathematical models designed to draw inferences about how evolution operates at the level of populations of organisms. The researchers conclude that such models must be constructed with care, avoiding unwarranted initial assumptions and weighing existing knowledge.
Early genetic testing and precision medicine lead to improved seizure control, enabling infants with epilepsy to leave the hospital sooner. A study at Ann & Robert H Lurie Children's Hospital of Chicago found a significant reduction in hospital stay time for babies with epilepsy who underwent genetic testing.
Researchers emphasize the need for targeted recruitment to make genetic tests clinically useful for non-European groups. By addressing cultural concerns and underrepresentation, efforts can reduce the incidence of variants of uncertain significance (VUS) in genetic databases.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
A large study has found six predictors that can help determine the optimal lithium dose for patients with bipolar disorder. The predictors include age, sex, kidney function, and medication use. The researchers hope to develop a digital app to aid psychiatrists in finding the right dose.
A study published in Med found that the human microbiome's variation explains different patient responses to statins. The researchers discovered a Bacteroides enriched microbiome with lower diversity was associated with stronger LDL-lowering effects but greater disruption of blood glucose levels.
Researchers at Texas A&M AgriLife Research have developed a mechanism to make temporary genetic changes in mosquitoes that self-delete over time. This technology has the potential to help manage mosquito populations and prevent vector-borne diseases like West Nile virus without permanently altering wild populations' genetic makeup.
The US Multisociety Task Force on Colorectal Cancer recommends genetic evaluation and personalized surveillance plans for patients with hamartomatous polyps. Genetic testing is critical in cancer prevention, allowing for tailored cancer surveillance to prevent progression and save lives.
A study found that 12% of recurrent ductal carcinoma in situ (DCIS) cases were new primary lesions unrelated to the original tumor. These findings suggest that genetic biomarkers for predicting recurrence may not be effective for all patients.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
The Victoria's Secret Global Fund for Women's Cancers has awarded five female researchers for their groundbreaking work on breast and gynecologic cancers. The recipients will receive a $100,000 honorarium and be invited to participate in a broader women's cancers grant program.
A recent study published in Translational Psychiatry found that pharmacogenetic testing significantly improved symptoms in patients with treatment-resistant depression. The study involved 276 patients and showed a nearly two-fold increase in remission rates compared to treatment as usual.
A recent brain imaging study has found evidence of weakening connections between key brain areas in adolescents at high genetic risk of developing bipolar disorder. This study suggests that early intervention strategies may be effective in preventing the progression towards major changes in the brain.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
A new study confirms that abnormalities in the GDF15 gene are involved in hyperemesis gravidarum, a condition causing severe nausea and vomiting during pregnancy. The discovery may lead to targeted treatments and improved care for women with HG.
A study has decoded the DNA of the Arabian Oryx, a vulnerable species that was on the brink of extinction. The researchers analyzed the genetic data to inform breeding programs and found moderate diversity in the population's gene pool.